Variant report

Variant	esv3422979
Chromosome Location	chr4:173402227-173404725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:173404168..173405809-chr4:173407513..173409648,2	K562	blood:

Extended variants
information (count: 141 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537751270	chr4:173402244-173402245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558079772	chr4:173402255-173402256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577556258	chr4:173402259-173402260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540255735	chr4:173402267-173402268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553561783	chr4:173402268-173402269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10032012	chr4:173402274-173402275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113923094	chr4:173402294-173402295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563085163	chr4:173402296-173402297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531997993	chr4:173402303-173402304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183146505	chr4:173402307-173402308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143747125	chr4:173402329-173402330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187118585	chr4:173402340-173402341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146842427	chr4:173402392-173402393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567627881	chr4:173402406-173402407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530141635	chr4:173402410-173402411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546719990	chr4:173402414-173402415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568706913	chr4:173402431-173402432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537689192	chr4:173402442-173402443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557750116	chr4:173402483-173402484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143728177	chr4:173402507-173402508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs60020762	chr4:173402513-173402514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs473662	chr4:173402514-173402515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114563579	chr4:173402520-173402521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533523555	chr4:173402522-173402523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199948553	chr4:173402525-173402526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192792337	chr4:173402526-173402527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372602774	chr4:173402536-173402537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573739548	chr4:173402570-173402571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536356501	chr4:173402574-173402575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556341135	chr4:173402592-173402593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576700822	chr4:173402603-173402604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538641653	chr4:173402623-173402624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545620281	chr4:173402634-173402635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139366552	chr4:173402639-173402640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572723037	chr4:173402642-173402643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541034029	chr4:173402648-173402649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560947844	chr4:173402670-173402671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184895943	chr4:173402671-173402672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549851601	chr4:173402672-173402673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200705217	chr4:173402680-173402681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187458783	chr4:173402696-173402697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531383192	chr4:173402713-173402714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551574332	chr4:173402743-173402744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137934012	chr4:173402765-173402766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372690327	chr4:173402768-173402769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571415631	chr4:173402794-173402795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201516723	chr4:173402795-173402796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547033067	chr4:173402796-173402797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370367848	chr4:173402815-173402816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs372463226	chr4:173402822-173402823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173402000-173404400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:173402800-173403600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:173402800-173403800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:173403000-173403400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:173403000-173403600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr4:173403400-173403600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:173403400-173403600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr4:173403600-173410200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:173403800-173404400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:173403800-173404600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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